Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	1474
Gene name	Cystatin E/M
Gene symbol	CST6
Synonyms (NCBI Gene)	ECTD15
Chromosome	11
Chromosome location	11q13.1
Summary	The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1590674994	C>T	Pathogenic	Coding sequence variant, stop gained

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018413	hsa-miR-335-5p	Microarray	18185580
MIRT2386543	hsa-miR-1249	CLIP-seq
MIRT2386544	hsa-miR-4652-5p	CLIP-seq
MIRT2386545	hsa-miR-542-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IEA
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	TAS	8995380
GO:0005515	Function	Protein binding	IPI	25630877, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0008544	Process	Epidermis development	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9099741
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
601891	2478	ENSG00000175315

Q15828

Protein name

Cystatin-M (Cystatin-6) (Cystatin-E)

Protein function

High affinity inhibitor for cathepsin L, cathepsin L2 (cathepsin V), and legumain (PubMed:30425301). Involved in the regulation of epidermal cornification, and hair follicle morphogenesis and maintenance (PubMed:30425301). {ECO:0000269|PubMed:30

PDB

4N6L , 4N6M , 4N6N , 4N6O , 6FK0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00031	Cystatin	36 → 135	Cystatin domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Restricted to the stratum granulosum of normal skin, the stratum granulosum/spinosum of psoriatic skin, and the secretory coils of eccrine sweat glands. Low expression levels are found in the nasal cavity. {ECO:0000269|PubMed:11348457}

Sequence

MARSNLPLALGLALVAFCLLALPRDARARPQERMVGELRDLSPDDPQVQKAAQAAVASYN
MGSNSIYYFRDTHIIKAQSQLVAGIKYFLTMEMGSTDCRKTRVTGDHVDLTTCPLAAGAQ
QEKLRCDFEVLVVPWQNSSQLLKHNCVQM

Sequence length

149

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ectodermal dysplasia 15, hypohidrotic/hair type	Pathogenic	rs1590674994	RCV000824677	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CST6-related disorder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CST6 (cystatin E/M)